A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3630531



Internal ID6670667
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:99599854..99615033hg38UCSC Ensembl
Innerchr12:99599860..99615028hg38UCSC Ensembl
Outerchr12:99599849..99615039hg38UCSC Ensembl
chr12:99993632..100008811hg19UCSC Ensembl
Innerchr12:99993638..100008806hg19UCSC Ensembl
Outerchr12:99993627..100008817hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg3815180
hg1915180
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14587009, essv14587016, essv14586992, essv14586999, essv14587000, essv14587010, essv14587007, essv14587002, essv14587012, essv14587013, essv14587015, essv14586993, essv14586997, essv14587004, essv14587005, essv14587006, essv14587011, essv14586998, essv14587014, essv14586991, essv14587008, essv14587003, essv14587001, essv14586995, essv14586996, essv14586994, essv14586990
SamplesHG00157, HG01440, NA20522, HG02006, NA20905, HG00148, NA18546, NA21120, HG01468, NA21106, NA20854, NA20849, HG03672, HG01785, HG03583, HG01668, HG01497, HG01486, HG01356, NA20814, HG01257, HG03702, HG04035, HG03905, NA20872, NA19315, HG04195
Known GenesANKS1B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3630531
Frequency
Sample Size2504
Observed Gain0
Observed Loss27
Observed Complex0
Frequencyn/a


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